Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C4021730
Disease: Junctional split
Junctional split 		6 0 5 0.71 0 0
CUI: C0079297
Disease: Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Progressiva 		4 0 4 0.67 0 0
CUI: C0478085
Disease: Other epidermolysis bullosa
Other epidermolysis bullosa 		4 0 4 0.67 0 0
CUI: C2673610
Disease: JEB-I
JEB-I 		4 0 4 0.67 0 0
CUI: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis 		5 0 4 0.57 0 0
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		5 0 4 0.57 0 0
CUI: C2673609
Disease: Epidermolysis bullosa inversa dystrophica
Epidermolysis bullosa inversa dystrophica 		5 0 4 0.57 0 0
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		6 35 4 0.50 9 4.0E-02
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia 		7 0 4 0.44 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		12 0 5 0.38 0 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa 		5 0 3 0.38 0 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		6 0 3 0.33 0 0
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		6 0 3 0.33 0 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		11 0 4 0.31 0 0
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		7 0 3 0.30 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		7 0 3 0.30 0 0
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		8 0 3 0.27 0 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		13 0 4 0.27 0 0
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		4 0 2 0.25 0 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		20 0 5 0.24 0 0
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		16 9 4 0.22 1 4.9E-03
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		5 0 2 0.22 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 3 0.21 0 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		11 0 3 0.21 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 0 5 0.21 0 0